Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01916:Atad5'

179974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atad5

Ensembl Gene

ENSMUSG00000017550

Gene Name

ATPase family, AAA domain containing 5

Synonyms

LOC237877, C130052G03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01916

Quality Score

Status

Chromosome

Chromosomal Location

79980226-80026620 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 80003665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017694] [ENSMUST00000108239]

AlphaFold

Q4QY64

Predicted Effect

probably null
Transcript: ENSMUST00000017694

SMART Domains

Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550

Domain	Start	End	E-Value	Type
low complexity region	298	311	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
coiled coil region	665	697	N/A	INTRINSIC
low complexity region	798	807	N/A	INTRINSIC
AAA	1111	1347	5.14e-5	SMART
Blast:AAA	1409	1526	1e-31	BLAST
low complexity region	1573	1583	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108239

SMART Domains

Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550

Domain	Start	End	E-Value	Type
low complexity region	298	311	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
coiled coil region	665	697	N/A	INTRINSIC
low complexity region	798	807	N/A	INTRINSIC
AAA	1108	1344	5.14e-5	SMART
Blast:AAA	1406	1523	1e-31	BLAST
low complexity region	1570	1580	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154168

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for a gene trap allele exhibit genomic instability, premature death, and a wide spectrum of spontaneous tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,684,937 (GRCm39)	T187A	probably damaging	Het
A430005L14Rik	C	A	4: 154,045,997 (GRCm39)	F214L	possibly damaging	Het
A830018L16Rik	C	A	1: 11,818,331 (GRCm39)		probably benign	Het
Adgrd1	T	C	5: 129,209,902 (GRCm39)	S342P	probably benign	Het
Aldh4a1	A	G	4: 139,371,457 (GRCm39)	Y457C	probably damaging	Het
Ankrd7	A	T	6: 18,868,250 (GRCm39)	E124V	possibly damaging	Het
Card14	T	C	11: 119,233,971 (GRCm39)	Y854H	probably benign	Het
Ccdc85c	T	C	12: 108,174,103 (GRCm39)	H355R	probably damaging	Het
Ccr3	T	A	9: 123,829,589 (GRCm39)	V308D	probably damaging	Het
Cep170	T	C	1: 176,567,476 (GRCm39)		probably benign	Het
Cmtr2	C	A	8: 110,948,580 (GRCm39)	Q297K	probably benign	Het
Col19a1	A	C	1: 24,573,322 (GRCm39)	L150R	unknown	Het
Cwf19l2	T	C	9: 3,477,869 (GRCm39)	I858T	possibly damaging	Het
Cyp39a1	C	T	17: 44,041,941 (GRCm39)	P383S	probably damaging	Het
Ddi2	C	T	4: 141,422,709 (GRCm39)		probably benign	Het
Dnah17	T	G	11: 118,016,114 (GRCm39)	I342L	probably benign	Het
Efhc1	T	C	1: 21,048,973 (GRCm39)	I462T	probably damaging	Het
Ephx4	A	T	5: 107,553,896 (GRCm39)		probably null	Het
Fam193b	A	G	13: 55,698,031 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,157,366 (GRCm39)	N2306D	possibly damaging	Het
Folr1	A	T	7: 101,507,947 (GRCm39)	H164Q	probably benign	Het
Fut10	T	C	8: 31,725,734 (GRCm39)	V163A	probably benign	Het
Gal3st4	G	A	5: 138,269,197 (GRCm39)	R83C	probably damaging	Het
Galnt16	T	C	12: 80,639,264 (GRCm39)		probably null	Het
Gata5	G	A	2: 179,968,734 (GRCm39)	S380F	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4787	A	T	12: 81,424,218 (GRCm39)	L647M	probably benign	Het
Gvin3	T	G	7: 106,201,033 (GRCm39)	H737P	probably benign	Het
Hcfc2	A	G	10: 82,570,217 (GRCm39)	K523E	possibly damaging	Het
Ift70a1	C	A	2: 75,811,223 (GRCm39)	V287L	probably damaging	Het
Igkv6-15	A	T	6: 70,383,458 (GRCm39)	Y114*	probably null	Het
Il10ra	A	T	9: 45,167,444 (GRCm39)	L369Q	probably damaging	Het
Il6st	A	G	13: 112,616,606 (GRCm39)	K51R	possibly damaging	Het
Kif26a	C	T	12: 112,143,328 (GRCm39)	P1194L	possibly damaging	Het
Kntc1	T	G	5: 123,939,976 (GRCm39)	L1590R	probably damaging	Het
Lipo3	G	T	19: 33,762,182 (GRCm39)	A105E	probably damaging	Het
Macf1	T	A	4: 123,335,423 (GRCm39)	S4382C	probably damaging	Het
Macf1	C	T	4: 123,369,830 (GRCm39)	E79K	probably damaging	Het
Nmnat2	T	C	1: 152,969,792 (GRCm39)	I195T	probably damaging	Het
Or11g25	A	G	14: 50,722,950 (GRCm39)	T12A	probably benign	Het
Pcdhb13	A	G	18: 37,576,914 (GRCm39)	T431A	possibly damaging	Het
Pcgf3	G	A	5: 108,634,045 (GRCm39)	G101D	probably benign	Het
Phip	T	C	9: 82,772,522 (GRCm39)	D1070G	possibly damaging	Het
Ren1	A	G	1: 133,286,150 (GRCm39)	H231R	probably benign	Het
Sox9	C	A	11: 112,675,500 (GRCm39)	Q230K	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,498,497 (GRCm39)	Y154N	probably damaging	Het
Thnsl1	A	T	2: 21,217,476 (GRCm39)	N410I	possibly damaging	Het
Tnfrsf21	A	T	17: 43,350,694 (GRCm39)	E286V	probably benign	Het
Trbv13-1	A	G	6: 41,093,246 (GRCm39)	R60G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wrn	T	A	8: 33,747,252 (GRCm39)	I1110F	possibly damaging	Het
Zfp777	G	T	6: 48,002,276 (GRCm39)	R649S	probably damaging	Het
Zmym6	T	A	4: 127,017,549 (GRCm39)	I1110N	probably damaging	Het

Other mutations in Atad5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Atad5	APN	11	80,023,684 (GRCm39)	missense	probably benign	0.22
IGL00916:Atad5	APN	11	80,009,826 (GRCm39)	missense	probably damaging	1.00
IGL01348:Atad5	APN	11	79,986,390 (GRCm39)	missense	probably benign	0.00
IGL01601:Atad5	APN	11	79,986,343 (GRCm39)	missense	probably benign	0.45
IGL02028:Atad5	APN	11	80,024,936 (GRCm39)	missense	probably benign	0.20
IGL02095:Atad5	APN	11	79,985,533 (GRCm39)	missense	probably benign	0.24
IGL02142:Atad5	APN	11	79,985,023 (GRCm39)	missense	probably benign	0.00
IGL02206:Atad5	APN	11	79,985,009 (GRCm39)	missense	probably damaging	1.00
IGL02385:Atad5	APN	11	79,985,453 (GRCm39)	missense	probably benign	0.04
IGL02858:Atad5	APN	11	79,980,601 (GRCm39)	missense	probably damaging	1.00
IGL02962:Atad5	APN	11	79,999,405 (GRCm39)	missense	possibly damaging	0.86
PIT4362001:Atad5	UTSW	11	80,002,393 (GRCm39)	missense	probably benign	0.04
R0040:Atad5	UTSW	11	79,988,840 (GRCm39)	missense	probably benign
R0157:Atad5	UTSW	11	79,980,643 (GRCm39)	missense	possibly damaging	0.74
R0211:Atad5	UTSW	11	79,986,473 (GRCm39)	missense	probably benign	0.00
R0211:Atad5	UTSW	11	79,986,473 (GRCm39)	missense	probably benign	0.00
R0319:Atad5	UTSW	11	80,011,616 (GRCm39)	splice site	probably benign
R0401:Atad5	UTSW	11	80,011,525 (GRCm39)	missense	probably benign	0.11
R0426:Atad5	UTSW	11	80,003,658 (GRCm39)	missense	probably benign	0.14
R0452:Atad5	UTSW	11	79,997,247 (GRCm39)	missense	probably damaging	0.98
R0496:Atad5	UTSW	11	79,991,182 (GRCm39)	missense	probably benign	0.08
R1691:Atad5	UTSW	11	79,986,358 (GRCm39)	missense	probably benign	0.00
R1812:Atad5	UTSW	11	80,023,873 (GRCm39)	missense	probably damaging	0.98
R2070:Atad5	UTSW	11	79,988,878 (GRCm39)	splice site	probably null
R2071:Atad5	UTSW	11	79,988,878 (GRCm39)	splice site	probably null
R2153:Atad5	UTSW	11	79,997,203 (GRCm39)	missense	probably benign	0.04
R2415:Atad5	UTSW	11	79,985,077 (GRCm39)	missense	probably damaging	1.00
R3917:Atad5	UTSW	11	79,994,120 (GRCm39)	missense	probably null	0.97
R4025:Atad5	UTSW	11	80,011,512 (GRCm39)	missense	probably damaging	1.00
R4464:Atad5	UTSW	11	79,991,137 (GRCm39)	splice site	probably null
R4561:Atad5	UTSW	11	79,986,715 (GRCm39)	missense	probably benign	0.01
R4579:Atad5	UTSW	11	79,986,017 (GRCm39)	missense	probably damaging	1.00
R4844:Atad5	UTSW	11	80,005,137 (GRCm39)	splice site	probably null
R4853:Atad5	UTSW	11	79,986,098 (GRCm39)	missense	probably damaging	1.00
R4873:Atad5	UTSW	11	80,011,515 (GRCm39)	missense	probably damaging	1.00
R4875:Atad5	UTSW	11	80,011,515 (GRCm39)	missense	probably damaging	1.00
R5054:Atad5	UTSW	11	79,985,502 (GRCm39)	missense	probably benign	0.10
R5226:Atad5	UTSW	11	79,985,888 (GRCm39)	missense	probably damaging	0.99
R5397:Atad5	UTSW	11	80,002,319 (GRCm39)	missense	probably damaging	1.00
R5449:Atad5	UTSW	11	80,014,934 (GRCm39)	missense	probably damaging	1.00
R5571:Atad5	UTSW	11	80,002,382 (GRCm39)	missense	probably benign	0.05
R5575:Atad5	UTSW	11	79,991,149 (GRCm39)	missense	probably benign	0.02
R5857:Atad5	UTSW	11	80,022,155 (GRCm39)	missense	probably benign	0.06
R5927:Atad5	UTSW	11	80,018,111 (GRCm39)	missense	probably damaging	1.00
R5928:Atad5	UTSW	11	79,985,003 (GRCm39)	missense	probably damaging	1.00
R5949:Atad5	UTSW	11	79,986,835 (GRCm39)	nonsense	probably null
R6102:Atad5	UTSW	11	80,002,398 (GRCm39)	critical splice donor site	probably null
R6254:Atad5	UTSW	11	80,018,215 (GRCm39)	missense	probably damaging	0.96
R6562:Atad5	UTSW	11	80,024,032 (GRCm39)	missense	probably benign	0.26
R6744:Atad5	UTSW	11	80,024,858 (GRCm39)	missense	probably benign	0.00
R7092:Atad5	UTSW	11	80,011,546 (GRCm39)	missense	possibly damaging	0.68
R7202:Atad5	UTSW	11	79,980,601 (GRCm39)	missense	probably damaging	1.00
R7345:Atad5	UTSW	11	79,986,832 (GRCm39)	missense	probably damaging	1.00
R7352:Atad5	UTSW	11	79,994,169 (GRCm39)	critical splice donor site	probably null
R7358:Atad5	UTSW	11	80,023,862 (GRCm39)	missense	probably benign	0.32
R7420:Atad5	UTSW	11	79,986,688 (GRCm39)	missense	probably benign	0.06
R7453:Atad5	UTSW	11	80,009,969 (GRCm39)	critical splice donor site	probably null
R7990:Atad5	UTSW	11	80,024,079 (GRCm39)	nonsense	probably null
R8012:Atad5	UTSW	11	79,985,066 (GRCm39)	missense	probably damaging	1.00
R8152:Atad5	UTSW	11	79,985,996 (GRCm39)	missense	possibly damaging	0.59
R8421:Atad5	UTSW	11	79,985,384 (GRCm39)	missense	probably damaging	0.98
R8842:Atad5	UTSW	11	80,000,910 (GRCm39)	missense	possibly damaging	0.87
R8918:Atad5	UTSW	11	79,986,473 (GRCm39)	missense	probably benign	0.02
R8943:Atad5	UTSW	11	79,986,524 (GRCm39)	missense	possibly damaging	0.86
R8944:Atad5	UTSW	11	79,986,524 (GRCm39)	missense	possibly damaging	0.86
R9134:Atad5	UTSW	11	80,023,931 (GRCm39)	missense	probably benign	0.00
R9137:Atad5	UTSW	11	79,986,481 (GRCm39)	missense	probably damaging	1.00
R9301:Atad5	UTSW	11	79,986,845 (GRCm39)	missense	probably damaging	1.00
R9372:Atad5	UTSW	11	79,985,094 (GRCm39)	missense	possibly damaging	0.68
R9404:Atad5	UTSW	11	80,005,064 (GRCm39)	missense	probably damaging	1.00
R9443:Atad5	UTSW	11	80,023,388 (GRCm39)	missense	probably benign	0.01
R9471:Atad5	UTSW	11	80,023,524 (GRCm39)	missense	possibly damaging	0.65
R9577:Atad5	UTSW	11	80,004,996 (GRCm39)	missense	probably damaging	1.00
R9656:Atad5	UTSW	11	79,980,542 (GRCm39)	start gained	probably benign
R9659:Atad5	UTSW	11	79,980,542 (GRCm39)	start gained	probably benign
R9661:Atad5	UTSW	11	79,980,542 (GRCm39)	start gained	probably benign
RF003:Atad5	UTSW	11	80,002,386 (GRCm39)	missense	probably damaging	0.99
X0024:Atad5	UTSW	11	80,023,609 (GRCm39)	missense	probably benign	0.02
Z1176:Atad5	UTSW	11	79,985,722 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07